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Article

Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.

The Tohoku journal of experimental medicine - 1 Feb 2006

Satiroglu-Tufan N Lale, Tufan A Cevik, Semerci C Nur, Bagci Huseyin

Abstract excerpt

Achondroplasia is the most common genetic form of dwarfism inherited as an autosomal dominant disorder. Individuals affected with achondroplasia have impaired ability to form bone from cartilage (endochondral bone formation). Homozygous achondroplasia is a neonatal lethal condition. The vast majority of patients with achondroplasia have a G-to-A transition at position 1138 of the fibroblast growth factor receptor...

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Share to Achondroplasia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Homozygote

Share to Molecular Diagnostic Techniques

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 16434832
DOI: 10.1620/tjem.208.103

Genes

FGFR3

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Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.PMID 16434832Read ↗

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